Term Name: | mitochondrial trifunctional protein deficiency |
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Synonyms: | MTPD, TFP deficiency, TFPD |
Definition: | A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy. |
Ontology: | Human Disease [DOID:0111277] ( DOID:0111277 ) |